Expanding research to provide an evidence base for nutritional interventions for the management of inborn errors of metabolism

Camp, Kathryn M.; Lloyd-Puryear, Michele A.; Yao, Lynne; Groft, Stephen C.; Parisi, Melissa A.; Mulberg, Andrew E.; Gopal-Srivastava, Rashmi; Cederbaum, Stephen D.; Enns, Gregory M.; Ershow, Abby G.; Frazier, Dianne M.; Gohagan, John K.; Harding, Cary O.; Howell, R. Rodney; Regan, Karen; Stacpoole, Peter W.; Venditti, Charles P.; Vockley, Jerry; Watson, Michael S.; Coates, Paul M.

doi:10.1016/j.ymgme.2013.05.008

Cited by 19 publications

(35 citation statements)

References 23 publications

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“…Inborn errors of metabolism (IEM) are genetic disorders in which specific enzyme defects interfere with the normal metabolism of exogenous (dietary) or endogenous protein, carbohydrate, or fat [1]. As a result of reduced or absent enzyme activity, toxic compounds may build up in the blood and brain, and other compounds may become deficient leading to adverse health outcomes.…”

Section: Introductionmentioning

confidence: 99%

“…Early diagnosis and treatment at or near birth can often counter the adverse effects of some IEM, resulting in normal or near normal health outcomes. In many cases, nutritional interventions are the primary therapies used to manage these disorders and are required lifelong [1]. …”

Section: Introductionmentioning

confidence: 99%

“…A National Institutes of Health (NIH) initiative, Nutrition and Dietary Supplement Interventions for Inborn Errors of Metabolism (NDSI-IEM), was launched in 2010 to identify gaps in knowledge concerning the safety, efficacy, and effectiveness of nutritional treatments, including dietary supplements, for IEM that would benefit from evidence-based research [1]. To inform research on IEM and provide necessary resources for researchers, we are providing previously unpublished tabulations of ten-year state incidence data for selected IEM detected through newborn screening (NBS).…”

Section: Introductionmentioning

confidence: 99%

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Inborn errors of metabolism identified via newborn screening: Ten-year incidence data and costs of nutritional interventions for research agenda planning

Therrell

Lloyd-Puryear

Camp

et al. 2014

Molecular Genetics and Metabolism

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Inborn errors of metabolism (IEM) are genetic disorders in which specific enzyme defects interfere with the normal metabolism of exogenous (dietary) or endogenous protein, carbohydrate, or fat. In the U.S., many IEM are detected through state newborn screening (NBS) programs. To inform research on IEM and provide necessary resources for researchers, we are providing: tabulation of ten-year state NBS data for selected IEM detected through NBS; costs of medical foods used in the management of IEM; and an assessment of corporate policies regarding provision of nutritional interventions at no or reduced cost to individuals with IEM. The calculated IEM incidences are based on analyses of ten-year data (2001–2011) from the National Newborn Screening Information System (NNSIS). Costs to feed an average person with an IEM were approximated by determining costs to feed an individual with an IEM, minus the annual expenditure for food for an individual without an IEM. Both the incidence and costs of nutritional intervention data will be useful in future research concerning the impact of IEM disorders on families, individuals and society.

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Section: Introductionmentioning

confidence: 99%

Section: Introductionmentioning

confidence: 99%

Section: Introductionmentioning

confidence: 99%

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Inborn errors of metabolism identified via newborn screening: Ten-year incidence data and costs of nutritional interventions for research agenda planning

Therrell

Lloyd-Puryear

Camp

et al. 2014

Molecular Genetics and Metabolism

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“…NBS Connect is the first self-reported patient registry for NBS disorders, with an initial focus on IMD [24]. …”

Section: Resultsmentioning

confidence: 99%

Development of newborn screening connect (NBS connect): a self-reported patient registry and its role in improvement of care for patients with inherited metabolic disorders

Osara

Coakley

Devarajan

et al. 2017

Orphanet J Rare Dis

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BackgroundNewborn Screening Connect (NBS Connect) is a web-based self-reported patient registry and resource for individuals and families affected by disorders included in the newborn screening panel. NBS Connect was launched in 2012 by Emory University after years of planning and grassroots work by professionals, consumers, and industry. Individuals with phenylketonuria (PKU), maple syrup urine disease (MSUD) or tyrosinemia (TYR) have been recruited through distribution of outreach materials, presentations at parent organization meetings and direct recruitment at clinic appointments. Participants complete online profiles generating data on diagnosis, treatment, symptoms, outcomes, barriers to care, and quality of life. Resources such as education materials, information on the latest research and clinical trials, recipes, interactive health tracking systems, and professional support tools are described. In addition, to examine the ability of NBS Connect to generate data that guides hypothesis-driven research, data pertaining to age at diagnosis, bone health, and skin conditions in individuals with PKU were assessed. The objective of this paper is to describe the development of NBS Connect and highlight its data, resources and research contributions.ResultsIn September 2016, NBS Connect had 442 registered participants: 314 (71%) individuals with PKU, 68 (15%) with MSUD, 20 (5%) with TYR, and 40 (9%) with other disorders on the NBS panel. Age at diagnosis was less than 4 weeks in 285 (89%) of 319 respondents to this question and between 1 month and 14 years in 29 (9%) individuals. Of 216 respondents with PKU, 33 (15%) had a DXA scan in the past year. Of 217 respondents with PKU, 99 (46%) reported at least one skin condition.ConclusionsNBS Connect was built and refined with feedback from all stakeholders, including individuals with inherited metabolic disorders. Based on patient-reported data, future studies can be initiated to test hypotheses such as the relationship between PKU and skin conditions. Patient registries like NBS Connect can inform hypothesis-driven research, contributing to knowledge generation and following the current trend in moving from traditional medicine towards evidence-based practice. NBS Connect will help clinicians understand long-term outcomes of rare disorders, contributing to better patient care and quality of life.

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“…Diet therapy is considered the cornerstone of many IEM treatments . These patients can present with minor illness that can precipitate rapid decompensation and deterioration .…”

Section: Introductionmentioning

confidence: 99%

Nutrition process improvements for adult inpatients with inborn errors of metabolism using the i‐PARIHS framework

Williams

Meij

Nisbet

et al. 2019

Nutrition & Dietetics

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Aim This project aimed to implement consensus recommendations and innovations that improve dietetic services to promote timely referral to optimise nutritional management for adult inpatients with inborn errors of metabolism (IEM). Methods The i‐PARIHS framework was used to identify service gaps, implement innovations and evaluate the innovations within this single‐site study. The constructs of this framework are: (i) review of the evidence; (ii) recognising patients and staff knowledge and attitudes; (iii) acknowledging the local context; and (iv) the facilitators role. This included a literature review and metabolic centre service comparisons to investigate dietetic referral and foodservice processes to inform the innovation. A 12‐month chart audit (6 months retrospective and prospective of implemented innovation, respectively) to evaluate newly established dietetic referral and IEM nutrition provision procedures was also completed. Results The innovations implemented encompassed a clinical alert triggering urgent referral, nutrition sick day plans and metabolic diet and formula prescription via an ‘alert’ tab in electronic records. Eleven metabolic protein‐restricted diets and nine formula recipes were introduced. Prior to the innovations, only 53% (n = 19/36) of inpatients with IEM were assessed by the dietitian and received appropriate nutrition within 24 hours. Following implementation of the innovations, 100% (n = 11/11) of inpatients with IEM received timely dietetic assessment and therapeutic nutrition. Conclusions Implementation of innovations developed using the i‐PARIHS framework is effective in timely notification of the metabolic dietitian of referrals. This ensures optimal nutritional management during admissions which is required in this group of high‐risk patients.

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Expanding research to provide an evidence base for nutritional interventions for the management of inborn errors of metabolism

Cited by 19 publications

References 23 publications

Inborn errors of metabolism identified via newborn screening: Ten-year incidence data and costs of nutritional interventions for research agenda planning

Inborn errors of metabolism identified via newborn screening: Ten-year incidence data and costs of nutritional interventions for research agenda planning

Development of newborn screening connect (NBS connect): a self-reported patient registry and its role in improvement of care for patients with inherited metabolic disorders

Nutrition process improvements for adult inpatients with inborn errors of metabolism using the i‐PARIHS framework

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